Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2

Status

Completed

Phases

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT01970735

Enrollment

103

Registered

2013-10-28

Start date

2013-10-30

Completion date

2014-12-16

Last updated

2023-11-14

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Muscular Dystrophy, Facioscapulohumeral

Brief summary

The aim of the study was to compare the severity of illness between groups of patients (Facio-Scapulo-Humeral Dystrophy = FHSD1, FSHD2 and patients both FSHD1 and FSHD2). Despite advances in research on the subject, answers are still needed on these diseases. We also aim to determine whether the chromosomal genetic abnormality is involved in other diseases and the frequency of this mutation in the population of patients FSHD. This study will increase our knowledge of the two forms of FSHD who present a common pathophysiological mechanism and may occur together in the same family with a worsening of the clinical phenotype worsening . In addition, epigenetic differences between FSHD type 1 and type 2 seems to have clinical consequences requiring appropriate management

Interventions

BIOLOGICALBlood test

Study design

Allocation

Intervention model

SINGLE_GROUP

Primary purpose

BASIC_SCIENCE

Masking

NONE

Eligibility

Sex/Gender

ALL

Age

18 Years to 75 Years

Healthy volunteers

Inclusion criteria

* age ≥ 18 years and \<75 years * FSHD patients 1 or 2 with or without genetic confirmation

Exclusion criteria

\- Patient with all conditions considered by the investigator interfering with the proper conduct of the study.

Design outcomes

Primary

Measure	Time frame
Muscle damage measure	One time at the inclusion
Level of muscle damage	One time at the inclusion

Countries

France

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 21, 2026